Mitochondrial Neurogastrointestinal Encephalopathy

Preferred Label : Mitochondrial Neurogastrointestinal Encephalopathy;

NCIt synonyms : MNGIE;

NCIt definition : A rare, autosomal recessive inherited disorder caused by mutation in the TYMP gene. It affects several parts of the body, particularly the gastrointestinal tract and nervous system. Signs and symptoms can appear in infancy, but they often begin by age twenty. The gastrointestinal signs and symptoms result from gastrointestinal dysmotility and include fullness after eating small amounts of food, dysphagia, nausea and vomiting after eating, abdominal pain, diarrhea, and intestinal blockage. The nervous system abnormalities include leukoencephalopathy, tingling, numbness, peripheral neuropathy, ptosis, ophthalmoplegia, and hearing loss.;

Details

Origin ID

C119678;

UMLS CUI

C0872218;

Automatic exact mappings (from CISMeF team)
- Mitochondrial neurogastrointestinal encephalopathy [ICD-11 More detail]
- thymidine phosphorylase [ORDO Gene]
Currated CISMeF NLP mapping
- Mitochondrial dna depletion syndrome 1 (mngie type) [OMIM Phenotype]
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
- Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) [SNOMED CT concept]
- Mitochondrial neurogastrointestinal encephalopathy [MedDRA Preferred Term]
- Mitochondrial neurogastrointestinal encephalopathy syndrome [MeSH concept]
- Myoneurogastrointestinal encephalopathy syndrome [ICD-11 More detail]
- mitochondrial DNA depletion syndrome 1 [DO Concept]
- mitochondrial DNA depletion syndrome 1 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial dna depletion syndrome 1 (mngie type) [OMIM Phenotype]
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
- Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) [SNOMED CT concept]
- Mitochondrial neurogastrointestinal encephalopathy [MedDRA Preferred Term]
- Mitochondrial neurogastrointestinal encephalopathy syndrome [MeSH concept]
- mitochondrial DNA depletion syndrome 1 [DO Concept]
- mitochondrial DNA depletion syndrome 1 [Disease (Nov.)]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TYMP Gene [NCIt concept]

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